A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643075



Internal ID7029844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:73055835..73059552hg38UCSC Ensembl
Innerchr18:73055835..73059552hg38UCSC Ensembl
Outerchr18:73055567..73059897hg38UCSC Ensembl
chr18:70723070..70726787hg19UCSC Ensembl
Innerchr18:70723070..70726787hg19UCSC Ensembl
Outerchr18:70722802..70727132hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383718
hg193718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15933484, essv15933490, essv15933468, essv15933471, essv15933486, essv15933467, essv15933466, essv15933483, essv15933476, essv15933485, essv15933481, essv15933472, essv15933479, essv15933478, essv15933465, essv15933470, essv15933480, essv15933474, essv15933473, essv15933488, essv15933469, essv15933475, essv15933487, essv15933489, essv15933477, essv15933482
SamplesHG00114, HG03593, NA12814, HG01359, HG00122, HG00334, HG00158, NA20541, NA11930, NA06984, NA19719, HG01440, HG00349, NA12777, HG00266, HG00332, NA11894, NA06985, HG00382, NA21117, HG00371, HG01770, HG00329, NA20510, HG00186, NA12890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643075
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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