A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12688178



Internal ID2359159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16391719..16441969hg38UCSC Ensembl
chr7:16431344..16481594hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3850251
hg1950251
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612397
Supporting Variants
SamplesHG02088
Known GenesISPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12688178
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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