A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657349



Internal ID9923454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148394311..148397121hg38UCSC Ensembl
Outerchr7:148394277..148397156hg38UCSC Ensembl
Innerchr7:148091403..148094213hg19UCSC Ensembl
Outerchr7:148091369..148094248hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382880
hg192880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1247e199
Supporting Variantsessv5419517
SamplesHG00436
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657349
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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