A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11883727



Internal ID1885543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42635864..42644156hg38UCSC Ensembl
Innerchr5:42635868..42644153hg38UCSC Ensembl
Outerchr5:42635861..42644160hg38UCSC Ensembl
chr5:42635966..42644258hg19UCSC Ensembl
Innerchr5:42635970..42644255hg19UCSC Ensembl
Outerchr5:42635963..42644262hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388293
hg198293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604877
Supporting Variants
SamplesNA19310
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11883727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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