A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640438



Internal ID6680525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35027593..35034270hg38UCSC Ensembl
Innerchr17:35028093..35033770hg38UCSC Ensembl
Outerchr17:35026593..35035270hg38UCSC Ensembl
chr17:33354612..33361289hg19UCSC Ensembl
Innerchr17:33355112..33360789hg19UCSC Ensembl
Outerchr17:33353612..33362289hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386678
hg196678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15664363, essv15664365, essv15664361, essv15664370, essv15664359, essv15664376, essv15664364, essv15664367, essv15664369, essv15664379, essv15664360, essv15664380, essv15664374, essv15664371, essv15664378, essv15664382, essv15664368, essv15664381, essv15664375, essv15664372, essv15664358, essv15664357, essv15664356, essv15664377, essv15664366, essv15664373, essv15664362
SamplesHG01985, HG03558, HG03115, NA20298, HG03193, HG03199, HG03082, HG03436, NA18519, NA19201, HG02541, HG03105, HG02816, HG03195, NA20412, HG03380, NA19209, HG02943, NA19175, HG02953, HG03085, HG03391, NA20296, NA19206, NA19019, NA19143, NA19117
Known GenesRAD51L3-RFFL, RFFL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640438
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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