A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599904



Internal ID6986949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22494032..22495740hg38UCSC Ensembl
Innerchr4:22494072..22495700hg38UCSC Ensembl
Outerchr4:22493992..22495780hg38UCSC Ensembl
chr4:22495655..22497363hg19UCSC Ensembl
Innerchr4:22495695..22497323hg19UCSC Ensembl
Outerchr4:22495615..22497403hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381709
hg191709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11370093, essv11370112, essv11370091, essv11370097, essv11370088, essv11370083, essv11370113, essv11370111, essv11370115, essv11370105, essv11370109, essv11370106, essv11370114, essv11370100, essv11370096, essv11370080, essv11370098, essv11370095, essv11370110, essv11370092, essv11370084, essv11370082, essv11370081, essv11370087, essv11370089, essv11370108, essv11370090, essv11370085, essv11370102, essv11370094, essv11370086, essv11370107, essv11370099, essv11370101, essv11370104, essv11370103
SamplesHG01986, NA19701, NA19909, HG03130, NA19092, HG03280, NA18878, HG02888, NA19190, HG03578, HG01365, NA20287, HG02981, HG03520, HG03189, HG02946, HG03270, HG02442, HG03132, HG03511, NA18516, HG02497, HG02555, NA19118, HG03136, NA19031, NA19338, HG02979, HG03046, NA18523, NA19108, NA18517, HG02941, HG03157, NA19116, HG03303
Known GenesGPR125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599904
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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