A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628291



Internal ID6668434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1710447..1716227hg38UCSC Ensembl
Innerchr12:1710497..1716177hg38UCSC Ensembl
Outerchr12:1710357..1716317hg38UCSC Ensembl
chr12:1819613..1825393hg19UCSC Ensembl
Innerchr12:1819663..1825343hg19UCSC Ensembl
Outerchr12:1819523..1825483hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385781
hg195781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14334659, essv14334665, essv14334660, essv14334662, essv14334664, essv14334663, essv14334661
SamplesHG03162, HG03166, NA18486, HG03547, NA18858, HG02345, HG03095
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628291
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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