A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11942977



Internal ID3422996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71877229..71877864hg38UCSC Ensembl
Innerchr5:71877229..71877864hg38UCSC Ensembl
Outerchr5:71876829..71878124hg38UCSC Ensembl
chr5:71173056..71173691hg19UCSC Ensembl
Innerchr5:71173056..71173691hg19UCSC Ensembl
Outerchr5:71172656..71173951hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605397
Supporting Variants
SamplesHG03061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11942977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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