A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12625331



Internal ID2627147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163556075..163561197hg38UCSC Ensembl
Innerchr6:163556129..163561143hg38UCSC Ensembl
Outerchr6:163556021..163561251hg38UCSC Ensembl
chr6:163977107..163982229hg19UCSC Ensembl
Innerchr6:163977161..163982175hg19UCSC Ensembl
Outerchr6:163977053..163982283hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg385123
hg195123
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611581
Supporting Variants
SamplesHG03679
Known GenesQKI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12625331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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