A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607292



Internal ID6994226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156449158..156454984hg38UCSC Ensembl
Innerchr5:156449167..156454976hg38UCSC Ensembl
Outerchr5:156449150..156454993hg38UCSC Ensembl
chr5:155876168..155881994hg19UCSC Ensembl
Innerchr5:155876177..155881986hg19UCSC Ensembl
Outerchr5:155876160..155882003hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385827
hg195827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12110653, essv12110654, essv12110655, essv12110651, essv12110652
SamplesHG00589, NA18748, NA19789, HG00475, HG00598
Known GenesSGCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607292
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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