A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587729



Internal ID6975152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161518654..161550169hg38UCSC Ensembl
chr1:161488444..161519959hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3831516
hg1931516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168359, essv10168334, essv10168331, essv10168348, essv10168330, essv10168360, essv10168351, essv10168340, essv10168333, essv10168341, essv10168338, essv10168350, essv10168332, essv10168344, essv10168342, essv10168349, essv10168357, essv10168358, essv10168336, essv10168361, essv10168346, essv10168337, essv10168339, essv10168353, essv10168355, essv10168352, essv10168343, essv10168335, essv10168356, essv10168362, essv10168347, essv10168345, essv10168354
SamplesHG03731, HG02150, HG03449, NA18878, NA12750, NA19107, HG02185, HG01853, HG01351, HG02952, HG01064, NA20910, HG02461, HG01281, HG03691, NA18864, NA19456, HG00178, NA18539, HG03123, HG01615, NA12827, HG01363, NA18517, NA18564, HG03708, HG02771, NA06994, HG01432, HG02053, NA19185, HG02774, NA20585
Known GenesFCGR2A, FCGR3A, HSPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587729
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer