A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611261



Internal ID6998171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151296980..151302644hg38UCSC Ensembl
Innerchr6:151296980..151302644hg38UCSC Ensembl
Outerchr6:151296740..151302907hg38UCSC Ensembl
chr6:151618115..151623779hg19UCSC Ensembl
Innerchr6:151618115..151623779hg19UCSC Ensembl
Outerchr6:151617875..151624042hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385665
hg195665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12583984
SamplesHG01678
Known GenesAKAP12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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