A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664246



Internal ID9930351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83231221..83288504hg38UCSC Ensembl
Outerchr7:83231184..83288554hg38UCSC Ensembl
Innerchr7:82860537..82917820hg19UCSC Ensembl
Outerchr7:82860500..82917870hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3857371
hg1957371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514316
SamplesHG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664246
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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