A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599529



Internal ID6986575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7545919..7546560hg38UCSC Ensembl
Innerchr4:7545969..7546510hg38UCSC Ensembl
Outerchr4:7545866..7546613hg38UCSC Ensembl
chr4:7547646..7548287hg19UCSC Ensembl
Innerchr4:7547696..7548237hg19UCSC Ensembl
Outerchr4:7547593..7548340hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11335898, essv11335899, essv11335900, essv11335897
SamplesNA20355, HG03136, NA19310, NA20334
Known GenesSORCS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599529
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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