A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12320687



Internal ID2580181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36958002..36959346hg38UCSC Ensembl
Innerchr6:36958008..36959341hg38UCSC Ensembl
Outerchr6:36957997..36959352hg38UCSC Ensembl
chr6:36925778..36927122hg19UCSC Ensembl
Innerchr6:36925784..36927117hg19UCSC Ensembl
Outerchr6:36925773..36927128hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608715
Supporting Variants
SamplesHG02284
Known GenesPI16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12320687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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