A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494780



Internal ID1696925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71804958..71808907hg38UCSC Ensembl
chr4:72670675..72674624hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383950
hg193950
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600957
Supporting Variants
SamplesHG01577
Known GenesGC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494780
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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