A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665985



Internal ID9585404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146419402..146420987hg38UCSC Ensembl
Outerchr7:146419245..146421140hg38UCSC Ensembl
Innerchr7:146116494..146118079hg19UCSC Ensembl
Outerchr7:146116337..146118232hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381896
hg191896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5661967
SamplesHG00475
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665985
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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