A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607530



Internal ID6994462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168038503..168049742hg38UCSC Ensembl
Innerchr5:168039003..168049242hg38UCSC Ensembl
Outerchr5:168037503..168050742hg38UCSC Ensembl
chr5:167465508..167476747hg19UCSC Ensembl
Innerchr5:167466008..167476247hg19UCSC Ensembl
Outerchr5:167464508..167477747hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3811240
hg1911240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12126350
SamplesHG01997
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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