A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304632



Internal ID15151580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45741575..45741576hg38UCSC Ensembl
Innerchr17:45741558..45741593hg38UCSC Ensembl
Outerchr17:45741557..45741594hg38UCSC Ensembl
chr17:43818941..43818942hg19UCSC Ensembl
Innerchr17:43818924..43818959hg19UCSC Ensembl
Outerchr17:43818923..43818960hg19UCSC Ensembl
chr17:41174712..41174713hg18UCSC Ensembl
Innerchr17:41174730..41174695hg18UCSC Ensembl
Outerchr17:41174694..41174731hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7817933, essv7798690, essv7784484, essv7806890, essv7829842, essv7797212, essv7805582, essv7816432, essv7815735, essv7814062, essv7832817, essv7806040, essv7825656, essv7812110, essv7816332, essv7826252, essv7823071, essv7775158, essv7771471, essv7818447, essv7779469, essv7811376
SamplesNA18502, NA18861, NA18508, NA18507, NA19190, NA18870, NA18498, NA19137, NA19172, NA18516, NA18871, NA18907, NA18853, NA19099, NA19257, NA18858, NA18909, NA19143, NA18501, NA19116, NA18505, NA19129
Known GenesCRHR1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304632
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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