A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585999



Internal ID6973518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49555490..49563896hg38UCSC Ensembl
Innerchr1:49555490..49563896hg38UCSC Ensembl
Outerchr1:49555377..49564007hg38UCSC Ensembl
chr1:50021162..50029568hg19UCSC Ensembl
Innerchr1:50021162..50029568hg19UCSC Ensembl
Outerchr1:50021049..50029679hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg388407
hg198407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9928292, essv9928289, essv9928291, essv9928290, essv9928286, essv9928285, essv9928282, essv9928288, essv9928276, essv9928280, essv9928284, essv9928283, essv9928279, essv9928278, essv9928275, essv9928281, essv9928277, essv9928287, essv9928274
SamplesHG03652, NA19746, NA20769, HG03736, HG01365, NA12275, HG00262, HG03649, HG01605, NA11831, HG00245, HG01948, HG02649, NA06989, HG01474, NA20872, HG01685, NA19759, HG02699
Known GenesAGBL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585999
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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