A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587216



Internal ID6627523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112663496..112664800hg38UCSC Ensembl
Innerchr1:112663646..112664650hg38UCSC Ensembl
Outerchr1:112663346..112664950hg38UCSC Ensembl
chr1:113206118..113207422hg19UCSC Ensembl
Innerchr1:113206268..113207272hg19UCSC Ensembl
Outerchr1:113205968..113207572hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10076586, essv10076596, essv10076591, essv10076587, essv10076593, essv10076576, essv10076581, essv10076582, essv10076589, essv10076577, essv10076574, essv10076595, essv10076588, essv10076597, essv10076583, essv10076594, essv10076579, essv10076590, essv10076575, essv10076573, essv10076578, essv10076592, essv10076580, essv10076585, essv10076584
SamplesHG02724, HG02649, HG02600, NA21130, NA20894, HG03765, NA20861, HG03696, HG04023, HG03897, HG03910, NA21108, HG04144, HG03770, HG01589, HG03792, HG03931, HG03823, HG03713, NA20858, NA21126, HG02604, HG03594, HG04189, HG03777
Known GenesCAPZA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587216
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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