A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642844



Internal ID7029613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65787801..65798246hg38UCSC Ensembl
Innerchr18:65787801..65798246hg38UCSC Ensembl
Outerchr18:65787534..65798563hg38UCSC Ensembl
chr18:63455037..63465482hg19UCSC Ensembl
Innerchr18:63455037..63465482hg19UCSC Ensembl
Outerchr18:63454770..63465799hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3810446
hg1910446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15910009, essv15910007, essv15910002, essv15909999, essv15910000, essv15909995, essv15909997, essv15909992, essv15909990, essv15909989, essv15909998, essv15910001, essv15909993, essv15910005, essv15910003, essv15909996, essv15909994, essv15910008, essv15910004, essv15909991, essv15910006
SamplesHG03731, HG04158, NA21128, HG03680, HG04070, HG04131, HG04214, HG03947, NA20845, HG04185, HG03714, HG04062, HG03786, HG03636, HG03824, HG03951, HG02783, HG01589, HG04209, NA20786, NA21120
Known GenesCDH7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642844
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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