A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599516



Internal ID6986562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7099271..7106770hg38UCSC Ensembl
Innerchr4:7099271..7106770hg38UCSC Ensembl
Outerchr4:7098963..7107106hg38UCSC Ensembl
chr4:7100998..7108497hg19UCSC Ensembl
Innerchr4:7100998..7108497hg19UCSC Ensembl
Outerchr4:7100690..7108833hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11332226, essv11332225
SamplesHG02389, HG02075
Known GenesFLJ36777
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599516
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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