A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661819



Internal ID9927924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235709427..235709963hg38UCSC Ensembl
chr1:235872727..235873263hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6383336, essv6295158, essv6441223, essv6352876, essv6151554, essv6128935, essv6303153, essv6561344, essv6249096, essv6209551, essv5793401, essv5402416, essv6317303, essv5910750, essv5404679, essv5965408, essv6581498, essv6087533, essv6481550, essv6325373, essv5564211, essv5407869, essv6170201, essv5773687, essv5422588, essv6368001, essv6029881, essv5944346, essv6417492, essv5775448, essv5565985, essv6419808, essv5719996, essv6398487, essv6069635, essv6084030, essv6022190, essv6177428, essv6558312, essv5486201, essv5948267, essv5729265, essv6403514, essv5811770, essv6256026, essv5965384, essv6253043, essv6528531, essv5581311, essv6290232, essv6211525, essv5539960, essv5486116, essv5701598, essv6416361, essv6183866, essv5806715
SamplesNA18561, NA12045, NA19350, NA18486, NA20294, NA18504, NA19377, NA20356, NA19920, NA18519, HG01365, NA19383, NA18874, NA18868, NA19172, NA18520, NA19239, NA18908, NA18867, NA19908, NA12489, NA19707, NA19462, NA19347, NA19455, NA19236, NA20126, NA18910, HG01390, NA19654, NA19114, NA20282, NA19257, NA18555, NA12144, NA19318, NA18576, NA19440, NA18517, NA19712, NA19435, NA19240, NA19380, NA19428, NA20281, NA19328, NA18501, NA19474, NA19093, NA19116, NA19711, NA19213, NA19312, NA12006, NA19463, NA18487, NA18562
Known GenesLYST
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661819
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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