Variant Details

Variant: esv2670847

Internal ID

9590266

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:4543104..4547210	hg38	UCSC Ensembl
Outer	chr19:4542733..4547580	hg38	UCSC Ensembl
Inner	chr19:4543116..4547222	hg19	UCSC Ensembl
Outer	chr19:4542745..4547592	hg19	UCSC Ensembl

Cytoband

19p13.3

Allele length

Assembly	Allele length
hg38	4848
hg19	4848

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv614e199

Supporting Variants

essv5562742, essv5979119, essv5740359, essv5456170, essv6328999, essv6170127, essv6119150, essv6094093, essv6053149, essv5672255, essv6223976, essv6093133, essv5940834, essv5691237, essv6402129, essv5677011, essv5857953, essv6284004, essv5767763, essv6131251, essv6377251, essv6136154, essv6162745, essv5990106, essv5594045, essv6405047, essv5571114, essv6317705, essv5753373, essv5985815, essv5864947, essv6412578, essv6347557, essv5956103, essv5764040, essv5793140, essv5492437, essv6318720, essv6411269, essv6458287, essv5848340, essv6471566, essv5866035, essv5460604, essv5881045, essv6410434, essv6248920, essv6382610, essv6142147, essv6480595, essv6541222

Samples

HG00315, HG00367, HG00318, HG00181, HG00271, HG00330, HG00346, HG00334, HG00185, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00268, HG00266, HG00282, HG00328, HG00190, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00278, HG00319, HG00339, HG00329, HG00342, HG00174, HG00310, HG00186, HG00280, HG00343, HG00274, HG00345

Known Genes

SEMA6B

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2670847

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a