A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613128



Internal ID6653339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50485880..50575170hg38UCSC Ensembl
Innerchr7:50486030..50575020hg38UCSC Ensembl
Outerchr7:50485730..50575320hg38UCSC Ensembl
chr7:50553578..50642867hg19UCSC Ensembl
Innerchr7:50553728..50642717hg19UCSC Ensembl
Outerchr7:50553428..50643017hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3889291
hg1989290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1286e214
Supporting Variantsessv12769136
SamplesNA20528
Known GenesDDC, LOC100129427
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613128
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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