A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611951



Internal ID6998853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4861563..4973875hg38UCSC Ensembl
chr7:4901194..5013506hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38112313
hg19112313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1249e214
Supporting Variantsessv12671527
SamplesHG01491
Known GenesMMD2, PAPOLB, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611951
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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