A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640621



Internal ID6680708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43181864..43183554hg38UCSC Ensembl
Innerchr17:43181864..43183554hg38UCSC Ensembl
Outerchr17:43181594..43183821hg38UCSC Ensembl
chr17:41333881..41335571hg19UCSC Ensembl
Innerchr17:41333881..41335571hg19UCSC Ensembl
Outerchr17:41333611..41335838hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381691
hg191691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679197, essv15679202, essv15679209, essv15679223, essv15679219, essv15679182, essv15679183, essv15679224, essv15679203, essv15679200, essv15679190, essv15679210, essv15679188, essv15679180, essv15679176, essv15679225, essv15679218, essv15679199, essv15679192, essv15679216, essv15679193, essv15679185, essv15679205, essv15679208, essv15679187, essv15679206, essv15679204, essv15679214, essv15679181, essv15679215, essv15679201, essv15679178, essv15679198, essv15679217, essv15679207, essv15679221, essv15679177, essv15679222, essv15679212, essv15679213, essv15679195, essv15679189, essv15679220, essv15679194, essv15679191, essv15679211, essv15679196, essv15679179, essv15679184, essv15679186
SamplesHG02614, NA19028, HG02337, NA20294, NA19393, NA18504, NA19098, NA19920, NA19171, HG02952, NA19307, NA19916, NA20287, NA19404, NA19383, NA19172, HG03380, HG03267, HG03270, HG03169, HG03160, NA19707, NA19152, HG01345, NA19461, HG03078, NA18856, NA20282, NA19257, HG02332, HG02635, NA19035, HG03567, HG02282, HG03461, HG03367, NA19019, HG02983, HG01894, NA19435, NA18865, HG03127, NA19428, NA19467, NA18501, NA19472, NA19096, NA19430, HG02855, NA18522
Known GenesNBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640621
Frequency
Sample Size2504
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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