A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611432



Internal ID6651651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160227727..160234000hg38UCSC Ensembl
Innerchr6:160227727..160234000hg38UCSC Ensembl
Outerchr6:160227227..160234500hg38UCSC Ensembl
chr6:160648759..160655032hg19UCSC Ensembl
Innerchr6:160648759..160655032hg19UCSC Ensembl
Outerchr6:160648259..160655532hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386274
hg196274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12612092, essv12612123, essv12612121, essv12612129, essv12612107, essv12612095, essv12612125, essv12612117, essv12612122, essv12612115, essv12612106, essv12612102, essv12612096, essv12612128, essv12612085, essv12612091, essv12612130, essv12612109, essv12612094, essv12612116, essv12612118, essv12612101, essv12612124, essv12612103, essv12612084, essv12612090, essv12612111, essv12612093, essv12612108, essv12612126, essv12612082, essv12612097, essv12612088, essv12612098, essv12612112, essv12612119, essv12612114, essv12612105, essv12612100, essv12612110, essv12612127, essv12612132, essv12612083, essv12612087, essv12612120, essv12612113, essv12612086, essv12612104, essv12612089, essv12612099, essv12612131
SamplesNA19332, HG02337, HG03115, HG03298, HG03190, NA19377, HG03515, NA19098, HG03135, NA19307, HG02620, HG03370, NA19197, NA19457, NA19130, HG02281, NA19923, HG01495, NA19137, HG03195, HG02477, NA19027, HG03081, HG02470, HG02976, HG03311, HG03301, NA19461, NA19114, HG03202, HG02445, NA19042, NA18912, HG02283, HG02286, NA18517, HG02941, NA19310, NA19360, HG02771, HG02970, NA20289, HG03351, HG02679, HG02013, NA19121, NA19030, NA18511, NA18522, HG03118, NA19429
Known GenesSLC22A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611432
Frequency
Sample Size2504
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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