A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12367290



Internal ID3222057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57051009..57051718hg38UCSC Ensembl
Innerchr6:57051020..57051708hg38UCSC Ensembl
Outerchr6:57050999..57051729hg38UCSC Ensembl
chr6:56915807..56916516hg19UCSC Ensembl
Innerchr6:56915818..56916506hg19UCSC Ensembl
Outerchr6:56915797..56916527hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609112
Supporting Variants
SamplesHG02836
Known GenesKIAA1586
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12367290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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