A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363934



Internal ID2882390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56129939..56149620hg38UCSC Ensembl
Innerchr6:56129939..56149620hg38UCSC Ensembl
Outerchr6:56129439..56150120hg38UCSC Ensembl
chr6:55994737..56014418hg19UCSC Ensembl
Innerchr6:55994737..56014418hg19UCSC Ensembl
Outerchr6:55994237..56014918hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3819682
hg1919682
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609089
Supporting Variants
SamplesHG02557
Known GenesCOL21A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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