A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628948



Internal ID6669088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27761204..27763840hg38UCSC Ensembl
Innerchr12:27761204..27763840hg38UCSC Ensembl
Outerchr12:27760942..27764142hg38UCSC Ensembl
chr12:27914137..27916773hg19UCSC Ensembl
Innerchr12:27914137..27916773hg19UCSC Ensembl
Outerchr12:27913875..27917075hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382637
hg192637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14419454, essv14419453, essv14419455, essv14419449, essv14419452, essv14419451, essv14419450
SamplesHG01277, HG01491, HG01468, HG01311, HG01140, HG01253, HG01497
Known GenesMANSC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628948
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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