A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670930



Internal ID9590349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42549523..42550666hg38UCSC Ensembl
chr4:42551540..42552683hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5561721
SamplesHG00683
Known GenesATP8A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670930
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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