A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14333104



Internal ID4334920
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628268
Supporting Variants
SamplesNA07037
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14333104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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