A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11855179



Internal ID1856995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32102570..32202633hg38UCSC Ensembl
chr5:32102676..32202739hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38100064
hg19100064
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604599
Supporting Variants
SamplesNA18983
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11855179
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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