A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12997915



Internal ID4072100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146636827..146675042hg38UCSC Ensembl
Innerchr7:146637327..146674542hg38UCSC Ensembl
Outerchr7:146635827..146676042hg38UCSC Ensembl
chr7:146333919..146372134hg19UCSC Ensembl
Innerchr7:146334419..146371634hg19UCSC Ensembl
Outerchr7:146332919..146373134hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3838216
hg1938216
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615380
Supporting Variants
SamplesHG03705
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12997915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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