A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629769



Internal ID7016590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64205990..64212423hg38UCSC Ensembl
Innerchr12:64205990..64212423hg38UCSC Ensembl
Outerchr12:64205490..64212923hg38UCSC Ensembl
chr12:64599770..64606203hg19UCSC Ensembl
Innerchr12:64599770..64606203hg19UCSC Ensembl
Outerchr12:64599270..64606703hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg386434
hg196434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14514574
SamplesHG02285
Known GenesC12orf66
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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