A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630225



Internal ID7017044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84878791..84879843hg38UCSC Ensembl
Innerchr12:84878791..84879843hg38UCSC Ensembl
Outerchr12:84878290..84880195hg38UCSC Ensembl
chr12:85272570..85273622hg19UCSC Ensembl
Innerchr12:85272570..85273622hg19UCSC Ensembl
Outerchr12:85272069..85273974hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14556562, essv14556585, essv14556579, essv14556556, essv14556584, essv14556576, essv14556577, essv14556582, essv14556561, essv14556581, essv14556559, essv14556560, essv14556586, essv14556558, essv14556568, essv14556575, essv14556550, essv14556573, essv14556570, essv14556557, essv14556571, essv14556555, essv14556583, essv14556554, essv14556553, essv14556551, essv14556564, essv14556565, essv14556574, essv14556566, essv14556578, essv14556569, essv14556567, essv14556572, essv14556563, essv14556552, essv14556580
SamplesNA20508, HG03607, HG02688, HG04059, HG00356, HG01277, HG00736, HG02655, HG00139, HG00130, HG00120, NA20278, NA11932, NA12889, HG01525, NA20869, HG01950, HG03709, HG01501, HG03714, HG00332, HG01392, HG01094, HG03660, NA19750, HG03974, HG00117, NA19740, HG01286, HG01075, NA11881, NA19749, HG00116, HG01489, HG00259, HG02654, HG01089
Known GenesSLC6A15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630225
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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