A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597766



Internal ID6984904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413152..130414080hg38UCSC Ensembl
Innerchr3:130413152..130414080hg38UCSC Ensembl
Outerchr3:130412911..130414148hg38UCSC Ensembl
chr3:130131996..130132924hg19UCSC Ensembl
Innerchr3:130131996..130132924hg19UCSC Ensembl
Outerchr3:130131755..130132992hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151537, essv11151524, essv11151533, essv11151550, essv11151541, essv11151534, essv11151518, essv11151516, essv11151547, essv11151551, essv11151517, essv11151520, essv11151519, essv11151540, essv11151549, essv11151525, essv11151543, essv11151529, essv11151538, essv11151531, essv11151546, essv11151522, essv11151532, essv11151548, essv11151523, essv11151552, essv11151526, essv11151535, essv11151545, essv11151542, essv11151527, essv11151536, essv11151528, essv11151539, essv11151530, essv11151544, essv11151521
SamplesHG00304, NA21111, HG00640, NA12751, NA20808, HG01351, NA19678, HG01488, HG01492, NA20518, HG00106, HG00253, HG00365, NA19670, NA12003, NA12878, HG01515, HG01088, HG00344, HG00239, NA12234, HG00146, NA20828, HG00141, HG03653, NA12043, HG02223, HG02049, HG01685, NA12347, NA06994, HG00371, HG01770, HG00259, HG00267, HG02681, HG04161
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597766
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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