A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656543



Internal ID9575962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146556761..146557598hg38UCSC Ensembl
Outerchr7:146556604..146557751hg38UCSC Ensembl
Innerchr7:146253853..146254690hg19UCSC Ensembl
Outerchr7:146253696..146254843hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872751, essv6222937, essv6294633
SamplesNA19701, NA19917, NA19375
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656543
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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