A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3892451

Internal ID

19183271

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:19779621..19932841	hg38	UCSC Ensembl
Outer	chr14:19669428..19994147	hg38	UCSC Ensembl
Inner	chr14:20247780..20401000	hg19	UCSC Ensembl
Outer	chr14:20137587..20462306	hg19	UCSC Ensembl
Inner	chr14:19317620..19470840	hg18	UCSC Ensembl
Outer	chr14:19207427..19532146	hg18	UCSC Ensembl

Cytoband

14q11.2

Allele length

Assembly	Allele length
hg38	324720
hg19	324720
hg18	324720

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25790043, essv25788374, essv25789845, essv25790840, essv25792604, essv25792205, essv25790877, essv25789920, essv25789546, essv25793111, essv25790173, essv25788415, essv25789732, essv25792044, essv25790728, essv25789242, essv25788878, essv25788963, essv25791398, essv25789579, essv25788931, essv25789946, essv25792889, essv25788941, essv25790901, essv25789314, essv25793033, essv25792457, essv25791426, essv25792826, essv25789912, essv25791064, essv25792812, essv25791146, essv25792896, essv25789376, essv25792804, essv25791553, essv25791944, essv25790504, essv25793011, essv25792944, essv25789259, essv25789556, essv25793121, essv25788477, essv25788372, essv25792278, essv25789707, essv25792874, essv25788559, essv25787871, essv25791101, essv25792753, essv25790957, essv25789344, essv25789012, essv25788633, essv25791691, essv25791545, essv25789648, essv25790197, essv25789931, essv25789254, essv25792975, essv25790897, essv25792516, essv25790764, essv25790251, essv25790210, essv25791989, essv25789437, essv25792423, essv25789799, essv25789399, essv25788822, essv25788532, essv25790844, essv25787765, essv25792560, essv25792647, essv25790964, essv25791454, essv25790619, essv25792785, essv25789145, essv25790771, essv25790652, essv25790295, essv25789917, essv25788870, essv25792509, essv25789283, essv25790329, essv25792815, essv25789550, essv25792707, essv25791789, essv25789523, essv25788531, essv25791127, essv25790569, essv25789944, essv25792931, essv25792739, essv25788630, essv25792933, essv25788689

Samples

Known Genes

OR11H2, OR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3

Method

SNP array

Analysis

Platform

Illumina HumanHap 610
Illumina Human OmniExpress

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	108
Observed Loss	0
Observed Complex	0
Frequency	n/a