A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12723735



Internal ID2725551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33730657..34432276hg38UCSC Ensembl
Innerchr7:33730675..34432259hg38UCSC Ensembl
Outerchr7:33730640..34432294hg38UCSC Ensembl
chr7:33770269..34471888hg19UCSC Ensembl
Innerchr7:33770287..34471871hg19UCSC Ensembl
Outerchr7:33770252..34471906hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38701620
hg19701620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612772
Supporting Variants
SamplesHG00148
Known GenesBMPER, NPSR1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12723735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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