A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11946053



Internal ID6142940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76135393..76162135hg38UCSC Ensembl
chr5:75431218..75457960hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3826743
hg1926743
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605459
Supporting Variants
SamplesNA19678
Known GenesSV2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11946053
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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