A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12625313



Internal ID2627129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163497743..163522920hg38UCSC Ensembl
Innerchr6:163497770..163522894hg38UCSC Ensembl
Outerchr6:163497717..163522947hg38UCSC Ensembl
chr6:163918775..163943952hg19UCSC Ensembl
Innerchr6:163918802..163943926hg19UCSC Ensembl
Outerchr6:163918749..163943979hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3825178
hg1925178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611578
Supporting Variants
SamplesHG01702
Known GenesQKI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12625313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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