A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12981557



Internal ID2821852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138794105..138836379hg38UCSC Ensembl
chr7:138478850..138521124hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3842275
hg1942275
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615200
Supporting Variants
SamplesHG02491
Known GenesATP6V0A4, KIAA1549, TMEM213
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12981557
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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