A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12315472



Internal ID1274714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34754610..34756371hg38UCSC Ensembl
Innerchr6:34755110..34755871hg38UCSC Ensembl
Outerchr6:34753610..34757371hg38UCSC Ensembl
chr6:34722387..34724148hg19UCSC Ensembl
Innerchr6:34722887..34723648hg19UCSC Ensembl
Outerchr6:34721387..34725148hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608671
Supporting Variants
SamplesHG01122
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12315472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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