A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617300



Internal ID7004186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56473460..56473867hg38UCSC Ensembl
Innerchr8:56473460..56473867hg38UCSC Ensembl
Outerchr8:56473220..56474141hg38UCSC Ensembl
chr8:57386019..57386426hg19UCSC Ensembl
Innerchr8:57386019..57386426hg19UCSC Ensembl
Outerchr8:57385779..57386700hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204516, essv13204515, essv13204509, essv13204487, essv13204504, essv13204500, essv13204526, essv13204495, essv13204517, essv13204505, essv13204510, essv13204493, essv13204523, essv13204518, essv13204520, essv13204499, essv13204527, essv13204501, essv13204490, essv13204522, essv13204497, essv13204513, essv13204489, essv13204503, essv13204521, essv13204511, essv13204514, essv13204507, essv13204528, essv13204494, essv13204492, essv13204512, essv13204502, essv13204524, essv13204491, essv13204508, essv13204506, essv13204498, essv13204488, essv13204496, essv13204519, essv13204525
SamplesHG03548, HG02012, HG03130, NA18486, HG02476, HG03518, HG03139, HG03172, HG02888, NA20356, HG03133, HG03082, HG03385, NA19315, HG03452, HG03105, NA19023, HG03578, NA19138, NA19384, NA19917, NA19209, HG03114, NA18867, NA19247, NA19984, NA20126, HG02014, HG02497, HG02817, HG03571, NA19160, HG01956, NA19436, HG01915, HG02923, NA19328, HG01912, HG02107, HG03072, NA19346, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617300
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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