Variant Details

Variant: esv2758678

Internal ID

9634137

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:18927303..19288734	hg38	UCSC Ensembl
Inner	chr17:18830616..19192047	hg19	UCSC Ensembl
Inner	chr17:18771341..19132640	hg18	UCSC Ensembl
Inner	chr17:18771341..19132640	hg17	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	361432
hg19	361432
hg18	361300
hg17	361300

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758444

Samples

NA18998, NA18502, NA19141, NA18621, NA11995, NA18861, NA18508, NA18999, NA18603, NA19092, NA18545, NA18526, NA18633, NA12813, NA18967, NA18563, NA19171, NA18940, NA19119, NA18860, NA18558, NA18547, NA18960, NA18942, NA12762, NA18964, NA06993, NA18949, NA18611, NA12761, NA18970, NA19172, NA19159, NA18990, NA10855, NA19007, NA18951, NA18605, NA19210, NA12752, NA19120, NA07022, NA19194, NA12753, NA12003, NA19152, NA18859, NA18515, NA18529, NA18516, NA18579, NA19103, NA18948, NA10838, NA18981, NA19208, NA19000, NA19154, NA18532, NA18853, NA12264, NA18555, NA06985, NA18570, NA18593, NA18945, NA18576, NA18608, NA18953, NA19094, NA18914, NA19206, NA06991, NA18961, NA18952, NA18517, NA18863, NA18564, NA12057, NA18913, NA10861, NA07348, NA18501, NA18971, NA19173, NA18994, NA19093, NA18609, NA18506, NA19102, NA19116, NA18968, NA18624, NA18612, NA19153, NA18562

Known Genes

EPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, PRPSAP2, SLC5A10

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2758678

Frequency

Sample Size	270
Observed Gain	49
Observed Loss	47
Observed Complex	0
Frequency	n/a