A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12110875



Internal ID3651899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156657719..156666903hg38UCSC Ensembl
Innerchr5:156657729..156666894hg38UCSC Ensembl
Outerchr5:156657710..156666913hg38UCSC Ensembl
chr5:156084730..156093914hg19UCSC Ensembl
Innerchr5:156084740..156093905hg19UCSC Ensembl
Outerchr5:156084721..156093924hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg389185
hg199185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607298
Supporting Variants
SamplesHG03246
Known GenesSGCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12110875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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