A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5661967



Internal ID8942785
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 Flag1
Merged StatusS
Merged Variantsesv2665985
Supporting Variants
SamplesHG00475
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5661967
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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