A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926962



Internal ID2424126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48729628..48734762hg38UCSC Ensembl
Innerchr1:48729635..48734756hg38UCSC Ensembl
Outerchr1:48729622..48734769hg38UCSC Ensembl
chr1:49195300..49200434hg19UCSC Ensembl
Innerchr1:49195307..49200428hg19UCSC Ensembl
Outerchr1:49195294..49200441hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385135
hg195135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585974
Supporting Variants
SamplesHG02141
Known GenesAGBL4, BEND5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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