A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602604



Internal ID6989637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147573835..147580312hg38UCSC Ensembl
Innerchr4:147573985..147580162hg38UCSC Ensembl
Outerchr4:147573685..147580462hg38UCSC Ensembl
chr4:148494987..148501464hg19UCSC Ensembl
Innerchr4:148495137..148501314hg19UCSC Ensembl
Outerchr4:148494837..148501614hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg386478
hg196478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11648325, essv11648327, essv11648332, essv11648331, essv11648328, essv11648326, essv11648324, essv11648330, essv11648329, essv11648333
SamplesHG00151, NA12413, HG00272, NA12348, NA19917, HG00332, HG00239, HG01791, NA12827, HG01618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602604
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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