A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643844



Internal ID6683913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18736283..18736788hg38UCSC Ensembl
Innerchr19:18736285..18736787hg38UCSC Ensembl
Outerchr19:18736282..18736790hg38UCSC Ensembl
chr19:18847093..18847598hg19UCSC Ensembl
Innerchr19:18847095..18847597hg19UCSC Ensembl
Outerchr19:18847092..18847600hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16004320, essv16004331, essv16004310, essv16004324, essv16004338, essv16004312, essv16004345, essv16004306, essv16004327, essv16004319, essv16004309, essv16004337, essv16004323, essv16004341, essv16004322, essv16004313, essv16004340, essv16004329, essv16004330, essv16004315, essv16004342, essv16004325, essv16004328, essv16004346, essv16004344, essv16004307, essv16004318, essv16004317, essv16004334, essv16004308, essv16004335, essv16004336, essv16004314, essv16004333, essv16004321, essv16004343, essv16004332, essv16004311, essv16004316, essv16004339, essv16004326
SamplesHG01241, HG01885, HG03086, NA19223, NA20296, NA19430, HG03212, HG01101, HG03199, HG03268, HG03049, NA18868, HG02895, HG02836, HG03461, HG01363, NA19020, HG02012, HG03241, HG02840, HG03397, HG02461, HG02938, NA19704, NA19332, HG02614, HG02309, HG01063, HG03303, HG01393, HG02629, HG02953, HG02628, HG03081, HG03259, NA19916, HG03270, HG02721, HG03557, HG02332, NA19439
Known GenesCRTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643844
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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