A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587861



Internal ID6628161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168318752..168320920hg38UCSC Ensembl
Innerchr1:168318752..168320920hg38UCSC Ensembl
Outerchr1:168318410..168321222hg38UCSC Ensembl
chr1:168287990..168290158hg19UCSC Ensembl
Innerchr1:168287990..168290158hg19UCSC Ensembl
Outerchr1:168287648..168290460hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10182280, essv10182302, essv10182303, essv10182297, essv10182306, essv10182283, essv10182305, essv10182293, essv10182286, essv10182284, essv10182315, essv10182292, essv10182299, essv10182287, essv10182291, essv10182309, essv10182279, essv10182307, essv10182311, essv10182282, essv10182312, essv10182310, essv10182288, essv10182300, essv10182301, essv10182278, essv10182281, essv10182313, essv10182285, essv10182290, essv10182308, essv10182314, essv10182296, essv10182304, essv10182294, essv10182289, essv10182295, essv10182298
SamplesHG02614, HG02339, HG01746, HG01413, NA19700, NA19909, NA11995, HG03052, HG02433, HG02337, NA20512, HG02895, HG03074, HG03133, HG03499, HG02645, HG03079, NA19651, NA19235, HG02588, NA19159, HG03363, HG01095, HG03027, HG02896, HG03240, HG02759, HG03539, NA19380, NA18865, HG02982, HG02974, HG02462, HG02768, HG01883, NA19121, HG02855, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587861
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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