A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614970



Internal ID6655171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128445815..128464650hg38UCSC Ensembl
Innerchr7:128445815..128464650hg38UCSC Ensembl
Outerchr7:128445315..128465150hg38UCSC Ensembl
chr7:128085869..128104704hg19UCSC Ensembl
Innerchr7:128085869..128104704hg19UCSC Ensembl
Outerchr7:128085369..128105204hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3818836
hg1918836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12964808
SamplesHG02885
Known GenesHILPDA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer