A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12137134



Internal ID2138950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175369635..175443027hg38UCSC Ensembl
chr5:174796638..174870030hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3873393
hg1973393
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607649
Supporting Variants
SamplesHG01795
Known GenesDRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12137134
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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