A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597407



Internal ID6637677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112060147..112102420hg38UCSC Ensembl
Innerchr3:112060297..112102270hg38UCSC Ensembl
Outerchr3:112059997..112102570hg38UCSC Ensembl
chr3:111778994..111821267hg19UCSC Ensembl
Innerchr3:111779144..111821117hg19UCSC Ensembl
Outerchr3:111778844..111821417hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842274
hg1942274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919e214
Supporting Variantsessv11103865, essv11103864
SamplesHG02131, NA19917
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597407
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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