A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12337719



Internal ID4442253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45703952..45705814hg38UCSC Ensembl
Innerchr6:45704002..45705764hg38UCSC Ensembl
Outerchr6:45703902..45705864hg38UCSC Ensembl
chr6:45671689..45673551hg19UCSC Ensembl
Innerchr6:45671739..45673501hg19UCSC Ensembl
Outerchr6:45671639..45673601hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381863
hg191863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608865
Supporting Variants
SamplesHG03950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12337719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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