A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600596



Internal ID6987638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57137231..57156271hg38UCSC Ensembl
Innerchr4:57137231..57156271hg38UCSC Ensembl
Outerchr4:57136928..57156478hg38UCSC Ensembl
chr4:58003397..58022437hg19UCSC Ensembl
Innerchr4:58003397..58022437hg19UCSC Ensembl
Outerchr4:58003094..58022644hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819041
hg1919041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11443251
SamplesHG02603
Known GenesIGFBP7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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