A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612933



Internal ID6653145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40496509..40498824hg38UCSC Ensembl
Innerchr7:40496509..40498824hg38UCSC Ensembl
Outerchr7:40496261..40499040hg38UCSC Ensembl
chr7:40536108..40538423hg19UCSC Ensembl
Innerchr7:40536108..40538423hg19UCSC Ensembl
Outerchr7:40535860..40538639hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382316
hg192316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12750072
SamplesHG00257
Known GenesC7orf10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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