A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631800



Internal ID7018609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37496253..37546593hg38UCSC Ensembl
Innerchr13:37496253..37546593hg38UCSC Ensembl
Outerchr13:37495964..37546867hg38UCSC Ensembl
chr13:38070390..38120730hg19UCSC Ensembl
Innerchr13:38070390..38120730hg19UCSC Ensembl
Outerchr13:38070101..38121004hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3850341
hg1950341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14695338, essv14695322, essv14695316, essv14695341, essv14695335, essv14695337, essv14695329, essv14695330, essv14695342, essv14695340, essv14695339, essv14695336, essv14695345, essv14695326, essv14695323, essv14695325, essv14695328, essv14695321, essv14695315, essv14695346, essv14695333, essv14695320, essv14695331, essv14695347, essv14695334, essv14695343, essv14695348, essv14695317, essv14695318, essv14695344, essv14695327, essv14695332, essv14695314, essv14695324, essv14695319
SamplesHG03096, NA19703, NA19204, HG03247, NA20356, HG03086, HG03099, NA18489, NA18923, HG02595, HG03578, NA19038, HG02703, NA19189, HG02623, NA19025, HG02943, HG02582, HG03046, NA19625, HG02568, NA19309, HG03240, HG03437, HG02759, HG02308, NA19473, HG02314, HG02558, HG03084, HG02646, HG02938, NA18876, NA19711, HG03129
Known GenesLINC00547
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631800
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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