A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596237



Internal ID6983554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57891807..57893064hg38UCSC Ensembl
Innerchr3:57891808..57893064hg38UCSC Ensembl
Outerchr3:57891807..57893065hg38UCSC Ensembl
chr3:57877534..57878791hg19UCSC Ensembl
Innerchr3:57877535..57878791hg19UCSC Ensembl
Outerchr3:57877534..57878792hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11020506, essv11020511, essv11020514, essv11020501, essv11020520, essv11020505, essv11020502, essv11020523, essv11020504, essv11020517, essv11020518, essv11020512, essv11020521, essv11020515, essv11020503, essv11020510, essv11020513, essv11020522, essv11020516, essv11020509, essv11020508, essv11020507, essv11020519
SamplesNA18592, NA18561, HG01802, HG02050, HG02734, NA18526, HG00622, HG00599, NA18560, NA18617, HG03585, NA18747, HG00443, HG00653, NA18644, HG00584, HG00463, NA18570, NA18945, HG02128, HG00478, NA19004, NA18997
Known GenesSLMAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596237
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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