A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677758



Internal ID2910845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126550454..126550666hg38UCSC Ensembl
chr5:125886146..125886358hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5552176, essv5633156, essv5763793, essv6113931, essv5688608, essv5704280, essv6337717, essv5860209, essv6489391, essv6344428, essv5502635, essv5675139, essv6277958
SamplesHG00326, NA20515, NA20757, NA20541, NA12716, NA20582, NA20756, NA12889, NA11992, NA20528, HG01374, NA20517, HG01354
Known GenesALDH7A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677758
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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