A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628268



Internal ID6668411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1004593..1005349hg38UCSC Ensembl
Innerchr12:1004601..1005342hg38UCSC Ensembl
Outerchr12:1004586..1005357hg38UCSC Ensembl
chr12:1113759..1114515hg19UCSC Ensembl
Innerchr12:1113767..1114508hg19UCSC Ensembl
Outerchr12:1113752..1114523hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38757
hg19757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333103, essv14333104, essv14333102, essv14333105
SamplesNA07037, HG00358, HG02345, NA12749
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628268
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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