A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576123



Internal ID6570139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143875267..143878743hg38UCSC Ensembl
Innerchr6:143875267..143878743hg38UCSC Ensembl
Outerchr6:143874834..143879172hg38UCSC Ensembl
chr6:144196404..144199880hg19UCSC Ensembl
Innerchr6:144196404..144199880hg19UCSC Ensembl
Outerchr6:144195971..144200309hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383477
hg193477
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611102
Supporting Variants
SamplesNA20760
Known GenesZC2HC1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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