A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12879850



Internal ID2881666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87945791..87950012hg38UCSC Ensembl
Innerchr7:87945823..87949981hg38UCSC Ensembl
Outerchr7:87945760..87950044hg38UCSC Ensembl
chr7:87575106..87579327hg19UCSC Ensembl
Innerchr7:87575138..87579296hg19UCSC Ensembl
Outerchr7:87575075..87579359hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384222
hg194222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614043
Supporting Variants
SamplesHG03565
Known GenesADAM22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12879850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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