A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11855197



Internal ID1857013
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 Variantsesv3604600
Supporting Variants
SamplesHG00472
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11855197
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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