A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303333



Internal ID14803595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143253208..143253209hg38UCSC Ensembl
Innerchr2:143253191..143253226hg38UCSC Ensembl
Outerchr2:143253190..143253227hg38UCSC Ensembl
chr2:144010777..144010778hg19UCSC Ensembl
Innerchr2:144010760..144010795hg19UCSC Ensembl
Outerchr2:144010759..144010796hg19UCSC Ensembl
chr2:143727247..143727248hg18UCSC Ensembl
Innerchr2:143727265..143727230hg18UCSC Ensembl
Outerchr2:143727229..143727266hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386053
hg196053
hg186053
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7793305, essv7830688, essv7777050, essv7800342, essv7809443, essv7809076, essv7832698, essv7821137, essv7823685, essv7793191, essv7772507, essv7770022, essv7804986, essv7789828, essv7814265, essv7823310, essv7802853, essv7810327, essv7796350, essv7777561, essv7827065, essv7829283, essv7796784, essv7789308, essv7783908, essv7771138, essv7781868, essv7809843, essv7831825, essv7811571, essv7794153, essv7778272, essv7788565, essv7781615, essv7827837
SamplesNA11881, NA18964, NA07037, NA11920, NA19093, NA11918, NA18550, NA18516, NA18517, NA18489, NA18965, NA12287, NA18943, NA18949, NA18566, NA11994, NA12155, NA18609, NA11831, NA18593, NA12144, NA12006, NA07346, NA12716, NA19102, NA06986, NA19005, NA18558, NA12872, NA18582, NA18552, NA19138, NA11993, NA18853, NA18980
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303333
Frequency
Sample Size185
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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