A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602442



Internal ID6989476
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1030e214
Supporting Variantsessv11633208, essv11633209, essv11633210
SamplesNA19917, HG03078, HG03914
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602442
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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