A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601047



Internal ID6641305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76197869..76198705hg38UCSC Ensembl
Innerchr4:76197973..76198597hg38UCSC Ensembl
Outerchr4:76197709..76198865hg38UCSC Ensembl
chr4:77119022..77119858hg19UCSC Ensembl
Innerchr4:77119126..77119750hg19UCSC Ensembl
Outerchr4:77118862..77120018hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11508229, essv11508233, essv11508231, essv11508237, essv11508236, essv11508228, essv11508230, essv11508234, essv11508235, essv11508227, essv11508232, essv11508238
SamplesHG02724, NA20903, HG03698, HG03631, HG02727, HG02783, HG04176, HG03696, HG04238, NA20854, HG03673, HG03594
Known GenesSCARB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601047
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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