A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628389



Internal ID7015213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5619474..5623656hg38UCSC Ensembl
Innerchr12:5619480..5623650hg38UCSC Ensembl
Outerchr12:5619468..5623662hg38UCSC Ensembl
chr12:5728640..5732822hg19UCSC Ensembl
Innerchr12:5728646..5732816hg19UCSC Ensembl
Outerchr12:5728634..5732828hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384183
hg194183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14344438, essv14344437, essv14344436, essv14344435
SamplesHG03195, HG02977, HG03363, HG02666
Known GenesANO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628389
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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