A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607379



Internal ID6647620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160757212..160759480hg38UCSC Ensembl
Innerchr5:160757262..160759430hg38UCSC Ensembl
Outerchr5:160757133..160759559hg38UCSC Ensembl
chr5:160184219..160186487hg19UCSC Ensembl
Innerchr5:160184269..160186437hg19UCSC Ensembl
Outerchr5:160184140..160186566hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382269
hg192269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12116547, essv12116546
SamplesNA19347, NA19320
Known GenesATP10B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607379
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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