A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094715



Internal ID5754662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149631391..149633511hg38UCSC Ensembl
Innerchr5:149631391..149633511hg38UCSC Ensembl
Outerchr5:149631290..149633638hg38UCSC Ensembl
chr5:149010954..149013074hg19UCSC Ensembl
Innerchr5:149010954..149013074hg19UCSC Ensembl
Outerchr5:149010853..149013201hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382121
hg192121
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607148
Supporting Variants
SamplesNA19129
Known GenesARHGEF37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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