A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630981



Internal ID6671114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122702434..122717012hg38UCSC Ensembl
Innerchr12:122702934..122716512hg38UCSC Ensembl
Outerchr12:122701434..122718012hg38UCSC Ensembl
chr12:123186981..123201559hg19UCSC Ensembl
Innerchr12:123187481..123201059hg19UCSC Ensembl
Outerchr12:123185981..123202559hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814579
hg1914579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308e214
Supporting Variantsessv14621547, essv14621548
SamplesHG01525, HG03625
Known GenesHCAR2, HCAR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630981
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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