A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665862



Internal ID9585281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66635863..66672612hg38UCSC Ensembl
Outerchr7:66635706..66672765hg38UCSC Ensembl
Innerchr7:66100850..66137599hg19UCSC Ensembl
Outerchr7:66100693..66137752hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3837060
hg1937060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5856992, essv5682806, essv5506369, essv6158154, essv5913731, essv6323085, essv6073233, essv6515909, essv5400391, essv6399018, essv6089493, essv6506226, essv6483147, essv5758449, essv6366478, essv6474997
SamplesHG00249, NA11995, HG00271, NA19068, NA19731, NA19385, HG00309, NA19722, NA19901, NA20536, NA19788, NA19440, NA18909, NA19380, HG00237, NA19755
Known GenesKCTD7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665862
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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