A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11633209



Internal ID4393842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139793539..139817398hg38UCSC Ensembl
Innerchr4:139793689..139817248hg38UCSC Ensembl
Outerchr4:139793389..139817548hg38UCSC Ensembl
chr4:140714693..140738552hg19UCSC Ensembl
Innerchr4:140714843..140738402hg19UCSC Ensembl
Outerchr4:140714543..140738702hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3823860
hg1923860
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602442
Supporting Variants
SamplesHG03914
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11633209
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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