A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676404



Internal ID9595823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43129452..43129820hg38UCSC Ensembl
chr7:43169051..43169419hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6067444, essv5702685, essv6236349
SamplesNA19072, NA18552, NA18622
Known GenesHECW1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676404
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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