A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996400



Internal ID8799514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7103566..7104216hg38UCSC Ensembl
Outerchr1:7103518..7104297hg38UCSC Ensembl
Innerchr1:7163626..7164276hg19UCSC Ensembl
Outerchr1:7163578..7164357hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662615
Supporting Variants
SamplesHG00245
Known GenesCAMTA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5996400
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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