A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576154



Internal ID2265769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144224080..144235172hg38UCSC Ensembl
Innerchr6:144224230..144235022hg38UCSC Ensembl
Outerchr6:144223930..144235322hg38UCSC Ensembl
chr6:144545217..144556308hg19UCSC Ensembl
Innerchr6:144545367..144556158hg19UCSC Ensembl
Outerchr6:144545067..144556458hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3811093
hg1911092
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611105
Supporting Variants
SamplesHG02025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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